| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
|
Synofzik, Matthis
|
|
2015
|
96 |
3 |
p. 514-
1 p.
|
artikel
|
| 2 |
2014 ASHG Awards and Addresses
|
|
|
2015
|
96 |
3 |
p. 345-346
2 p.
|
artikel
|
| 3 |
A Somatic MAP3K3 Mutation Is Associated with Verrucous Venous Malformation
|
Couto, Javier A.
|
|
2015
|
96 |
3 |
p. 480-486
7 p.
|
artikel
|
| 4 |
Characterization of Large Structural Genetic Mosaicism in Human Autosomes
|
Machiela, Mitchell J.
|
|
2015
|
96 |
3 |
p. 487-497
11 p.
|
artikel
|
| 5 |
Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB
|
Rauch, Frank
|
|
2015
|
96 |
3 |
p. 425-431
7 p.
|
artikel
|
| 6 |
Complex History of Admixture between Modern Humans and Neandertals
|
Vernot, Benjamin
|
|
2015
|
96 |
3 |
p. 448-453
6 p.
|
artikel
|
| 7 |
2014 Curt Stern Award: Adventures in Human Genetics 1
|
Abecasis, Gonçalo R.
|
|
2015
|
96 |
3 |
p. 363-366
4 p.
|
artikel
|
| 8 |
2014 Curt Stern Award: A Tryst with Genetics 1
|
Daly, Mark J.
|
|
2015
|
96 |
3 |
p. 369-371
3 p.
|
artikel
|
| 9 |
2014 Curt Stern Award Introduction: Gonçalo Abecasis 1
|
Boehnke, Michael
|
|
2015
|
96 |
3 |
p. 361-362
2 p.
|
artikel
|
| 10 |
2014 Curt Stern Award Introduction: Mark Daly 1
|
Palotie, Aarno
|
|
2015
|
96 |
3 |
p. 367-368
2 p.
|
artikel
|
| 11 |
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
|
Chong, Jessica X.
|
|
2015
|
96 |
3 |
p. 462-473
12 p.
|
artikel
|
| 12 |
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
|
Arboleda, Valerie A.
|
|
2015
|
96 |
3 |
p. 498-506
9 p.
|
artikel
|
| 13 |
Dominance Genetic Variation Contributes Little to the Missing Heritability for Human Complex Traits
|
Zhu, Zhihong
|
|
2015
|
96 |
3 |
p. 377-385
9 p.
|
artikel
|
| 14 |
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
|
Tham, Emma
|
|
2015
|
96 |
3 |
p. 507-513
7 p.
|
artikel
|
| 15 |
Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems
|
Iqbal, Zafar
|
|
2015
|
96 |
3 |
p. 386-396
11 p.
|
artikel
|
| 16 |
Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci
|
Leslie, Elizabeth J.
|
|
2015
|
96 |
3 |
p. 397-411
15 p.
|
artikel
|
| 17 |
Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
|
Lin, Zhimiao
|
|
2015
|
96 |
3 |
p. 440-447
8 p.
|
artikel
|
| 18 |
Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4
|
Bras, Jose
|
|
2015
|
96 |
3 |
p. 474-479
6 p.
|
artikel
|
| 19 |
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
|
Garbes, Lutz
|
|
2015
|
96 |
3 |
p. 432-439
8 p.
|
artikel
|
| 20 |
Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
|
Murray, Jennie E.
|
|
2015
|
96 |
3 |
p. 412-424
13 p.
|
artikel
|
| 21 |
2014 Presidential Address: The Time of Our Lives 1
|
Morton, Cynthia Casson
|
|
2015
|
96 |
3 |
p. 347-351
5 p.
|
artikel
|
| 22 |
Selection and Reduced Population Size Cannot Explain Higher Amounts of Neandertal Ancestry in East Asian than in European Human Populations
|
Kim, Bernard Y.
|
|
2015
|
96 |
3 |
p. 454-461
8 p.
|
artikel
|
| 23 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
96 |
3 |
p. 343-344
2 p.
|
artikel
|
| 24 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
96 |
3 |
p. 341-342
2 p.
|
artikel
|
| 25 |
2014 Victor A. McKusick Leadership Award 1
|
Valle, David
|
|
2015
|
96 |
3 |
p. 374-376
3 p.
|
artikel
|
| 26 |
2014 Victor A. McKusick Leadership Award Introduction: David Valle 1
|
McInnes, Roderick R.
|
|
2015
|
96 |
3 |
p. 372-373
2 p.
|
artikel
|
| 27 |
2014 William Allan Award: A Hematologist’s Pursuit of Hemoglobin Genetics 1
|
Orkin, Stuart H.
|
|
2015
|
96 |
3 |
p. 354-360
7 p.
|
artikel
|
| 28 |
2014 William Allan Award Introduction: Stuart Orkin 1
|
Kazazian Jr., Haig H.
|
|
2015
|
96 |
3 |
p. 352-353
2 p.
|
artikel
|
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